Canonical Allele Identifier: CA384954540
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1938192479
gnomAD v4: 12-52488503-C-T
MyVariant Identifiers: chr12:g.52882287C>T (hg19) chr12:g.52488503C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488503C>T , CM000674.2:g.52488503C>T GRCh38
NC_000012.11:g.52882287C>T , CM000674.1:g.52882287C>T GRCh37
NC_000012.10:g.51168554C>T NCBI36
NG_008298.1:g.9895G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1249G>A MANE Select ENSP00000369317.3:p.Glu417Lys
ENST00000330722.6:c.1249G>A ENSP00000369317.3:p.Glu417Lys
NM_005554.3:c.1249G>A NP_005545.1:p.Glu417Lys
NM_005554.4:c.1249G>A MANE Select NP_005545.1:p.Glu417Lys
Search 100 bp 5'
Search 100 bp 3'